Disease-causing mutations in the human genome.

Disease-causing mutations in the human genome.

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http://www.wikidata.org/entity/Q34160918
From Genetics to Epigenetics: New Perspectives in Tourette Syndrome ResearchMutation update on the CHD7 gene involved in CHARGE syndromeIdentification of a major recombination hotspot in patients with short stature and SHOX deficiency.Mutations in the CHD7 gene: the experience of a commercial laboratoryRecurrent and Founder Mutations in the Netherlands: the Long-QT Syndrome.Majority of divergence between closely related DNA samples is due to indels.Disease susceptibility genes for autism.Exploiting CpG hypermutability to identify phenotypically significant variation within human protein-coding genesHomeodomain revisited: a lesson from disease-causing mutations.Patterns of nucleotide substitution, insertion and deletion in the human genome inferred from pseudogenesMutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.N6-methyl-adenine: an epigenetic signal for DNA-protein interactionsHuman diallelic insertion/deletion polymorphisms.Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions.
P2860

Disease-causing mutations in the human genome.

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http://www.wikidata.org/entity/Q34160918
description
2000 nî lūn-bûn
@nan
2000 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Disease-causing mutations in the human genome.
@ast
Disease-causing mutations in the human genome.
@en
Disease-causing mutations in the human genome.
@nl
type
label
Disease-causing mutations in the human genome.
@ast
Disease-causing mutations in the human genome.
@en
Disease-causing mutations in the human genome.
@nl
prefLabel
Disease-causing mutations in the human genome.
@ast
Disease-causing mutations in the human genome.
@en
Disease-causing mutations in the human genome.
@nl
P1433
P1476
P2093
P2888
P304
P31
P356
P478
P50
P577
P5875
P6179
P698
P356
P1433
P1476
Disease-causing mutations in the human genome.
@en
P2093
P2888
P304
P31
P356
P478
P50
P577
P5875
P6179
P698